Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 21
Filtrar
1.
Ren Fail ; 46(1): 2306232, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38275184

RESUMO

AIM OF THE STUDY: The study aimed to assess the prevalence of executive function impairment among patients with chronic kidney disease (CKD) undergoing dialysis, with no subjective cognitive problems and with normal global cognition on the Mini-Mental State Examination (MMSE). We also investigated the relationship between cardiovascular risk factors and cognitive test results. RATIONALE FOR THE STUDY: Patients with CKD, including those undergoing renal replacement therapy, are at a higher risk of developing cognitive impairment (CI) than the general population. Recent research has shown CI to be a growing problem among CKD patients worldwide. Yet, it remains underdiagnosed, even though it may significantly influence the lives of patients. MATERIALS AND METHODS: In this cross-sectional, prospective study, 58 dialysis patients with no cognitive decline on the MMSE screening were assessed for executive function impairment using the Executive Clock-Drawing Task (CLOX). Moreover, past medical history, demographic data, and laboratory test results were collected. RESULTS: The mean patient age was 59.47 ± 14.98 years, and the mean duration of dialysis was 45.93 ± 48.49 months. The prevalence of executive function impairment amounted to 8.6%. Moreover, remarkably similar pattern of clock drawing was observed, with numbers written outside the clock face in the CLOX1 test. CONCLUSIONS: Executive dysfunctions in dialysis patients may manifest itself before the onset of global cognitive impairment. There appear to be a deficit in the spatial domain as well. Better education may play a protective role.


Assuntos
Disfunção Cognitiva , Insuficiência Renal Crônica , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Estudos Prospectivos , Estudos Transversais , Testes Neuropsicológicos , Diálise Renal/efeitos adversos , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/terapia
2.
Clin Kidney J ; 16(12): 2378-2392, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38046029

RESUMO

There is growing evidence that chronic kidney disease (CKD) is an independent risk factor for cognitive impairment, especially due to vascular damage, blood-brain barrier disruption and uremic toxins. Given the presence of multiple comorbidities, the medication regimen of CKD patients often becomes very complex. Several medications such as psychotropic agents, drugs with anticholinergic properties, GABAergic drugs, opioids, corticosteroids, antibiotics and others have been linked to negative effects on cognition. These drugs are frequently included in the treatment regimen of CKD patients. The first review of this series described how CKD could represent a risk factor for adverse drug reactions affecting the central nervous system. This second review will describe some of the most common medications associated with cognitive impairment (in the general population and in CKD) and describe their effects.

3.
Front Med (Lausanne) ; 10: 1215583, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37621458

RESUMO

Chronic kidney disease (CKD) affects approximately 850 million people globally and is associated with an increased risk of cognitive impairment. The prevalence of cognitive impairment among CKD patients ranges from 30 to 60%, and the link between CKD and cognitive impairment is partially understood. Methodological challenges and biases in studying cognitive function in CKD patients need to be addressed to improve diagnosis, treatment, and management of cognitive impairment in this population. Here, we review the methodological challenges and study design issues, including observational studies' limitations, internal validity, and different types of bias that can impact the validity of research findings. Understanding the unique challenges and biases associated with studying cognitive function in CKD patients can help to identify potential sources of error and improve the quality of future research, leading to more accurate diagnoses and better treatment plans for CKD patients.

4.
Kidney Blood Press Res ; 48(1): 587-595, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37619550

RESUMO

INTRODUCTION: Cognitive impairment (CI) is common in end-stage kidney disease (ESKD), including kidney transplant recipients. Patients with cognitive problems may find it difficult to comply with medical recommendations after kidney transplantation (KT), which can be the cause of many complications, poorer prognosis, and increased hospitalization rates after transplantation. Additionally, some patients after KT may experience depression and anxiety, which are prevalent comorbidities in patients with ESKD. METHODS: In this single-center, cross-sectional study, we included 56 consecutive adult patients after KT. Cognitive function was assessed using the Addenbrooke Cognitive Test III (ACE III). In addition, all patients were screened for depression and anxiety using the Hospital Anxiety and Depression Scale (HADS). The impact of immunosuppressive therapy and other disease-related variables on cognitive function was also assessed. RESULTS: A total of 56 KT patients, with a mean age of 50.3 ± 11.7 years, transplanted ≤35 months ago were included in the study. The prevalence of CI was 30%. Compared with cognitively unimpaired patients, patients with CI scored significantly lower in all cognitive domains. Furthermore, better cognitive functioning after KT was significantly associated with more years of schooling. We found no significant correlation between CI and age at assessment, duration of dialysis before KT, creatinine levels, creatinine clearance, uric acid levels, hemoglobin levels, comorbid cardiovascular diseases, and immunosuppressive therapy. In addition, the prevalence of depression and anxiety in screening tests was 12.5% and 27%, respectively, and patients receiving higher daily dose of prednisone had higher HADS scores on both the depression and anxiety subscales (not statistically significant). DISCUSSION: Cognitive disorders are a relevant issue in kidney transplant recipients. There might be many factors, both before and after KT, that have a negative impact on cognition. Therefore, further research is needed to increase knowledge about the course and profile of cognitive function after KT.


Assuntos
Disfunção Cognitiva , Falência Renal Crônica , Transplante de Rim , Adulto , Humanos , Pessoa de Meia-Idade , Transplante de Rim/efeitos adversos , Diálise Renal , Estudos Transversais , Creatinina , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Falência Renal Crônica/terapia , Ansiedade/psicologia , Transplantados/psicologia
5.
Eur J Neurol ; 30(9): 2899-2911, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37326125

RESUMO

BACKGROUND: Cognitive impairment is common in patients with chronic kidney disease (CKD), and early intervention may prevent the progression of this condition. METHODS: Here, we review interventions for the complications of CKD (anemia, secondary hyperparathyroidism, metabolic acidosis, harmful effects of dialysis, the accumulation of uremic toxins) and for prevention of vascular events, interventions that may potentially be protective against cognitive impairment. Furthermore, we discuss nonpharmacological and pharmacological methods to prevent cognitive impairment and/or minimize the latter's impact on CKD patients' daily lives. RESULTS: A particular attention on kidney function assessment is suggested during work-up for cognitive impairment. Different approaches are promising to reduce cognitive burden in patients with CKD but the availabe dedicated data are scarce. CONCLUSIONS: There is a need for studies assessing the effect of interventions on the cognitive function of patients with CKD.


Assuntos
Transtornos Cognitivos , Disfunção Cognitiva , Insuficiência Renal Crônica , Humanos , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/prevenção & controle , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/prevenção & controle , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/terapia , Cognição , Diálise Renal/efeitos adversos
6.
J Clin Med ; 12(9)2023 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-37176560

RESUMO

INTRODUCTION: Hemodialysis patients are at higher risk of developing cognitive impairment, but the pattern of affected cognitive domains is still undetermined. Little is also known about the symptoms of depression and anxiety in hemodialysis patients. METHODS: In this cross-sectional study, we included 74 consecutive adult patients undergoing hemodialysis. Cognitive functions were assessed using the Addenbrooke Cognitive Test III. In addition, all patients were screened for symptoms of depression and anxiety using the Hospital Anxiety and Depression Scale. RESULTS: The mean age of hemodialysis patients was 65.69 ± 14 years. Among the patients, there were 27% and 31% of patients with mild cognitive impairment and suspected dementia, respectively. In the group of patients with suspected dementia, all cognitive functions had significantly lower values compared to these functions in incognitively unimpaired and mild cognitive impairment patients. The most impaired domain was verbal fluency, which reflects impairments in executive function. Depression and anxiety symptoms were observed in 28% and 22% of patients, respectively. Patients with anxiety symptoms had higher levels of endogenous creatinine, parathyroid hormone, and hemoglobin, as well as decreased creatinine clearance, being younger and less educated. No factors contributing to the occurrence of depressive symptoms were found. CONCLUSION: Cognitive dysfunction is a significant problem in hemodialysis patients. Our study showed that the prevalence of cognitive impairment and depression and anxiety symptoms in hemodialysis patients was high. The domain of executive functions was most affected. Furthermore, creatinine, parathyroid hormone, hemoglobin levels, creatinine clearance, and education affected the anxiety scale score.

7.
Kidney Blood Press Res ; 48(1): 202-208, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36940679

RESUMO

BACKGROUND: Cognitive impairment (CI) in patients with chronic kidney disease, including those treated with renal replacement therapy, is a growing problem worldwide. OBJECTIVES: The study aimed to assess the prevalence of CI and associated factors in patients undergoing peritoneal dialysis (PD). METHODS: In this cross-sectional study, 18 consecutive patients with PD therapy and 15 controls were evaluated for CI using the Addenbrooke's Cognitive Examination III (ACE III) test. RESULTS: The prevalence of CI was 33% in patients and 27% in the control group and was not statistically significant. A higher prevalence of CI was found in subjects aged ≥65 years old than in those <65 years old (p = 0.02), but only in the control group. The prevalence of CI in PD patients over and under 65 years of age did not differ statistically significantly (p = 0.12). Memory and verbal fluency were the most affected cognitive domain in PD patients with CI (p = 0.00, p = 0.04, respectively). There was a significant correlation between higher educated PD patients and the ACE III test results. The duration of dialysis did not affect the results of the cognitive screening test. CONCLUSIONS: CI is a growing problem in the course of chronic kidney disease and dialysis therapy. It seems that cognitive problems may occur in patients undergoing PD at a younger age than in the general population with particularly affected memory and verbal fluency. Higher educated patients score better on the cognitive screening test.


Assuntos
Disfunção Cognitiva , Diálise Peritoneal , Insuficiência Renal Crônica , Humanos , Idoso , Prevalência , Estudos Transversais , Diálise Renal , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Diálise Peritoneal/efeitos adversos , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/terapia
8.
J Stroke Cerebrovasc Dis ; 32(3): 106951, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36565520

RESUMO

BACKGROUND: Transient global amnesia is a benign syndrome characterized by a sudden onset loss of anterograde amnesia with full recovery. Magnetic resonance of the brain including diffusion-weighted imaging of patients with transient global amnesia revealed the presence of punctate hyperintense signal abnormalities in the hippocampus. OBJECTIVE: Analysis of the presence of hippocampal lesions in brain magnetic resonance imaging in patients with transient global amnesia and the possible influence of additional factors on their appearance. METHODS: In this retrospective, an observational study we assessed brain magnetic resonance imaging in 38 consecutive patients with transient global amnesia. The incidence of brain magnetic resonance imaging lesions was analyzed for the coexisting cardiovascular risk factors and precipitating events. RESULTS: Hippocampal brain magnetic resonance imaging lesions were detected in 47% of patients with transient global amnesia. Of those, 65% had unilateral lesions, 82% were left-sided, and 28% were right-sided. Most lesions were located in the CA1 subfield. The incidence of hypertension in patients with transient global amnesia was higher than in the general population. Stress and exercise preceded the onset of transient global amnesia only in 13% and 16% of patients, respectively. There was no higher incidence of migraine in transient global amnesia patients (13%). CONCLUSIONS: We found that nearly 50% of patients with transient global amnesia had hyperintense hippocampal brain magnetic resonance imaging lesions. In addition to hypertension, individuals with transient global amnesia had similar cardiovascular risk factors as the general population. We did not identify any precipitating events prior to the onset of transient global amnesia.


Assuntos
Amnésia Global Transitória , Hipertensão , Humanos , Amnésia Global Transitória/diagnóstico por imagem , Amnésia Global Transitória/epidemiologia , Amnésia Global Transitória/etiologia , Estudos Retrospectivos , Imageamento por Ressonância Magnética/efeitos adversos , Imagem de Difusão por Ressonância Magnética/métodos , Hipocampo/patologia , Hipertensão/complicações , Amnésia/complicações , Amnésia/patologia
9.
Kidney Blood Press Res ; 47(7): 459-466, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35447625

RESUMO

BACKGROUND: Chronic kidney disease (CKD) affects the crosstalk between organs in the body and vast majority of studies were devoted to the interactions between the kidneys and the cardiovascular system. As of today, there is more evidence of the kidney and the central nervous system connections. SUMMARY: Indeed, CKD and in particular dialysis therapy is linked to the increased prevalence of neurological complications, such as cerebrovascular disorders, movement disorders, cognitive impairment, and depression. Both traditional cardiovascular risk factors (such as diabetes, hypertension, and lipid disorders), nontraditional risk factors (such as uremic toxins, anemia, and secondary hyperparathyroidism) may predispose CKD patients to neurological disorders. Likewise, cognitive problems occur more commonly in kidney transplant recipients, regardless of age, than in the general population, but the prevalence is still understudied. Cognitive impairment is associated with a higher risk of hospitalization, mortality, decreased quality of life, or health care costs in kidney transplant recipients. Here, we review (i) the potential clinical impact of kidney transplantation on cerebrovascular and neurological complications, (ii) evaluation of patients with cognitive impairment for kidney transplantation (iii) the potential impact of cognitive impairment on waitlisted and transplanted patients on patient care, and (iv) unmet medical needs. KEY MESSAGES: Cognitive impairment in kidney transplant recipients is an underestimated, underrecognized but clinically relevant problem. The screening for cognitive declines after kidney transplantation is not yet a routine practice. Several prospective and cross-sectional studies reported improvement across some of the assessed cognitive domains after transplantation.


Assuntos
Disfunção Cognitiva , Transplante de Rim , Insuficiência Renal Crônica , Disfunção Cognitiva/etiologia , Estudos Transversais , Humanos , Transplante de Rim/efeitos adversos , Estudos Prospectivos , Qualidade de Vida , Insuficiência Renal Crônica/terapia
10.
Artigo em Inglês | MEDLINE | ID: mdl-28980485

RESUMO

OBJECTIVE: To assess cardiovascular responses to cold face test (CFT) in patients with classic-onset ALS (bulbar or limb onset, ALS-C) and in patients with flail arm and flail leg phenotypes (FA/FL). METHODS: In 18 ALS-C, eight FA/FL patients and 10 age-matched controls we continuously monitored heart rate (HR), systolic (SBP), diastolic (DBP) and mean blood pressure (MBP) during two-minute baseline and one-minute cold stimulus application. HR and BP responses to CFT were calculated as differences between the peak responses and baseline values (dHR, dSBP, dDBP, dMBP), as percent changes from baseline (dHR%, dSBP%, dDBP%, dMBP%), and also latencies and durations of HR and BP responses were assessed (LatHR, tHR, LatBP, tBP). RESULTS: There were no differences in baseline values of HR, SBP, DBP and MBP among ALS-C, FA/FL and controls (p > 0.05). A decrease in HR and increases in SBP, DBP and MBP were observed in all subjects (p < 0.05). However, in FA/FL, the magnitude of BP responses, i.e. dSBP, dSBP%, dDBP, dMBP, and dMBP% were significantly higher than in controls. Moreover, these BP responses occurred with a significantly shorter latency in FA/FL than in controls and ALS-C. Furthermore, duration of the BP changes was significantly longer in FA/FL than in ALS-C. In contrast, ALS-C patients had a significantly longer LatHR and shorter tHR than healthy persons. However, no significant differences were observed in dHR or dHR% among the three groups. CONCLUSIONS: Sympathetic vascular response to facial cooling is increased in flail phenotypes of ALS.


Assuntos
Esclerose Lateral Amiotrófica/fisiopatologia , Pressão Sanguínea/fisiologia , Resposta ao Choque Frio/fisiologia , Frequência Cardíaca/fisiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Agitação Psicomotora/fisiopatologia
11.
Neurol Neurochir Pol ; 51(5): 339-346, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28756015

RESUMO

OBJECTIVES: Mechanical thrombectomy (MT) is not reimbursed by the Polish public health system. We present a description of 5 years of experience with MT in acute stroke in Comprehensive Stroke Centers (CSCs) in Poland. METHODS AND RESULTS: We retrospectively analyzed the results of a structured questionnaire from 23 out of 25 identified CSCs and 22 data sets that include 61 clinical, radiological and outcome measures. RESULTS: Most of the CSCs (74%) were founded at University Hospitals and most (65.2%) work round the clock. In 78.3% of them, the working teams are composed of neurologists and neuro-radiologists. All CSCs perform CT and angio-CT before MT. In total 586 patients were subjected to MT and data from 531 of them were analyzed. Mean time laps from stroke onset to groin puncture was 250±99min. 90.3% of the studied patients had MT within 6h from stroke onset; 59.3% of them were treated with IV rt-PA prior to MT; 15.1% had IA rt-PA during MT and 4.7% - emergent stenting of a large vessel. M1 of MCA was occluded in 47.8% of cases. The Solitaire device was used in 53% of cases. Successful recanalization (TICI2b-TICI3) was achieved in 64.6% of cases and 53.4% of patients did not experience hemorrhagic transformation. Clinical improvement on discharge was noticed in 53.7% of cases, futile recanalization - in 30.7%, mRS of 0-2 - in 31.4% and mRS of 6 in 22% of cases. CONCLUSION: Our results can help harmonize standards for MT in Poland according to international guidelines.


Assuntos
Acidente Vascular Cerebral/cirurgia , Trombectomia/métodos , Humanos , Polônia , Estudos Retrospectivos
12.
Neurol Neurochir Pol ; 51(2): 135-139, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28187987

RESUMO

OBJECTIVE: Genetic factors play a role in pathogenesis of amyotrophic lateral sclerosis (ALS). A few studies demonstrated that the TT genotype of C677T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene can increase the risk of sporadic ALS. The aim of our study was to determine the relationship between C677T polymorphism of MTHFR gene and the risk of sporadic ALS in Polish population and to perform the meta-analysis assessing the significance this polymorphism for the risk of ALS in Caucasian population. METHODS: We included 251 patients with ALS and 500 control subjects recruited from Polish population and performed the meta-analysis of published data from Caucasian population. MTHFR C677T polymorphism was genotyped using a TaqMan assay and 7900HT Fast real Time PCR System. RESULTS: The frequency of genotypes did not differ significantly between Polish ALS patients and control subjects (CC: 45.0 vs 45.8%, CT: 48.2 vs 45.0%, TT: 6.8 vs 9.2%, P=0.46). The meta-analysis including 863 ALS patients and 1362 controls revealed that TT genotype increases the risk of sporadic ALS in Caucasian population. CONCLUSION: Although we did not find the association between C677T polymorphism of MTHRF gene and risk of ALS in Polish population, the results of meta-analysis suggest that the TT genotype can be a genetic risk factor for ALS in Caucasian population.


Assuntos
Alelos , Esclerose Lateral Amiotrófica/genética , Predisposição Genética para Doença/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético/genética , Adulto , Idoso , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Risco
13.
J Neuroimmunol ; 297: 76-80, 2016 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-27397079

RESUMO

BACKGROUND: Activation of Toll-like receptor 4 (TLR4) contributes to brain injury and poor outcome after cerebral ischemia. The expression of this receptor on monocytes is increased in patients with acute ischemic stroke. Endotoxin is an endogenous ligand for TLR4. The aim of our study was to determine if plasma endotoxin activity is increased in stroke patients and correlates with functional outcome. METHODS: We included 88 patients with ischemic stroke (median age: 71, 56.8% men) and 59 age-matched controls. Plasma endotoxin activity and level of proteins regulating endotoxin interaction with TLR4 (LPS binding protein - LBP and sCD14) were measured in blood samples taken at day 1 (within 24h after stroke symptoms onset), 3 and 6. Short-term functional outcome was assessed at day 14 using modified Rankin Scale. Unfavourable outcome was defined as modified Rankin Scale score>2. RESULTS: Compared to controls, stroke patients had higher plasma endotoxin activity on day 1 (median: 0.39 vs 0.32EU/mL, P=0.03) as well as higher LBP (median: 18.7 vs 11.5µg/mL, P<0.01) and sCD14 level (median: 1330 vs 1070ng/mL, P<0.01). Plasma LPS activity and levels of LBP and sCD14 significantly rose during stroke. Higher LPS activity measured on day 6 was associated with unfavourable outcome (OR: 3.94, 95%CI: 1.03-15.02, P=0.04, adjusted for age and stroke severity). CONCLUSIONS: Plasma endotoxin activity rises during ischemic stroke and is associated with worse short-term outcome.


Assuntos
Isquemia Encefálica/complicações , Endotoxinas/sangue , Acidente Vascular Cerebral/sangue , Acidente Vascular Cerebral/etiologia , Proteínas de Fase Aguda , Idoso , Proteínas de Transporte/sangue , Feminino , Humanos , Receptores de Lipopolissacarídeos/sangue , Masculino , Glicoproteínas de Membrana/sangue , Pessoa de Meia-Idade , Estatísticas não Paramétricas , Fatores de Tempo
14.
Neurol Neurochir Pol ; 48(4): 242-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25168322

RESUMO

Associations between the angiotensin II type 1 receptor (AGTR1) gene A1166C polymorphism and hypertension, aortic abdominal aneurysms (as a risk factor) as well as cardiovascular disorders (as a risk factor and an outcome predictor) have been demonstrated. We aimed to investigate the role of this polymorphism as risk factors and outcome predictors in primary intracerebral hemorrhage (PICH) and aneurysmal subarachnoid hemorrhage (aSAH). We have prospectively recruited 1078 Polish participants to the study: 261 PICH patients, 392 aSAH patients, and 425 unrelated control subjects. The A1166C AGTR1 gene polymorphism was studied using the tetra-primer ARMS-PCR method. Allele and genotype frequencies were compared with other ethnically different populations. The A1166C polymorphism was not associated with the risk of PICH or aSAH. Among the aSAH patients the AA genotype was associated with a good outcome, defined by a Glasgow Outcome Scale of 4 or 5 (p<0.02). The distribution of A1166C genotypes in our cohort did not differ from other white or other populations of European descent. In conclusion, we found an association between the A1166C AGTR1 polymorphism and outcome of aSAH patients, but not with the risk of PICH or aSAH.


Assuntos
Receptor Tipo 1 de Angiotensina/genética , Hemorragia Subaracnóidea/epidemiologia , Hemorragia Subaracnóidea/genética , Adulto , Idoso , Feminino , Frequência do Gene , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Polimorfismo Genético , Estudos Prospectivos , Fatores de Risco
15.
Pharmacol Rep ; 66(4): 704-7, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24948075

RESUMO

BACKGROUND: Oxidative stress may be a key element in pathogenesis of sporadic amyotrophic lateral sclerosis (sALS). Several studies proved that markers of peroxidation of lipids, proteins or nucleic acids are increased in postmortem tissue of sALS patients. However, much less is known about enzymatic antioxidant defense mechanism in sALS. OBJECTIVES: The aim of the study was to assess catalase (CAT) activity that is implicated in the defense against oxidative stress, in three blood fractions, i.e. erythrocytes, plasma and serum of sALS patients and healthy controls. METHODS: Altogether 46 sALS patients and 54 controls were enrolled in the study. CAT activity was estimated using a commercially available assay kit. RESULTS: CAT activity in erythrocytes of sALS patients was significantly decreased compared to neurologically healthy controls (p=0.04), whereas CAT activity in plasma and serum was similar in both studied groups. CONCLUSIONS: CAT activity in erythrocytes, in contrast to other blood fractions is reduced in sALS cases as compared to controls, which may indirectly indicate that antioxidant defense system in erythrocytes is involved in pathogenesis of sALS.


Assuntos
Esclerose Lateral Amiotrófica/sangue , Antioxidantes/metabolismo , Catalase/sangue , Eritrócitos/enzimologia , Esclerose Lateral Amiotrófica/enzimologia , Estudos de Casos e Controles , Humanos , Peroxidação de Lipídeos , Estresse Oxidativo
16.
Neurol Neurochir Pol ; 48(2): 105-10, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24821635

RESUMO

BACKGROUND AND PURPOSE: Spontaneous intracerebral haemorrhage (ICH) is the most fatal form of stroke with the highest morbidity and disability rate of all stroke types. Recent data suggest that the genetic background has a sizeable and mostly undiscovered effect on the brain haemorrhage risk. Since the coagulation system is crucial to ICH pathology, we studied the significance of the FGA Thr312Ala polymorphism in two European populations. MATERIALS AND METHODS: We genotyped 550 and 224 controls as well as 261 and 242 stroke patients in Polish and Greek populations, respectively. The ICH diagnosis was confirmed by computed tomography. The FGA Thr312Ala polymorphism was analysed using real-time polymorphism chain reaction. RESULTS: Both crude and multivariable regression analyses showed that the studied polymorphism is a protective factor in the Polish population under the dominant and additive models of inheritance. Those results did not replicate in the Greek population. The meta-analysis of results from the Polish and the Greek populations proved that FGA Thr312Ala polymorphism affects the risk of ICH in the dominant model of inheritance. CONCLUSIONS: The FGA Thr312Ala polymorphism affects a risk for ICH in the Polish but not in the Greek population. An advanced meta-analysis of well-designed studies with a significant number of cases might provide useful information of novel polymorphisms, including the FGA Thr312Ala polymorphism, and their role in ICH pathology.


Assuntos
Hemorragia Cerebral/genética , Fibrinogênio/genética , Acidente Vascular Cerebral/genética , Idoso , Feminino , Genes Dominantes , Predisposição Genética para Doença , Genótipo , Grécia , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Polimorfismo Genético/genética , Análise de Regressão , Risco
17.
Eur Neurol ; 72(1-2): 64-71, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24861139

RESUMO

BACKGROUND: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are complex neurodegenerative disorders that can be either sporadic or familial and can overlap clinically and pathologically. We present the first Central-Eastern European family with ALS-FTD syndrome due to a C9ORF72 repeat expansion. METHODS: We studied a family consisting of 37 family members, 6 of whom were genetically evaluated for C9ORF72 expansions. Family members were evaluated clinically, by history, and by chart review. RESULTS: Overall, 5 generations of the family were studied, and 6 affected family members were identified. All affected members were females and had a different clinical presentation, which was ALS, FTD or both. Among the genetically evaluated subjects, 5 carried a C9ORF72 expansion; 4 of these individuals remain clinically unaffected. CONCLUSION: Our report reveals that the hexanucleotide repeat expansion of C9ORF72, which is the most common genetic cause of ALS-FTD complex disorder, is also present in Central-Eastern Europe. Further studies are needed to assess the frequency of this expansion in the Polish population with familial as well as sporadic ALS, FTD and the ALS-FTD complex disorder.


Assuntos
Esclerose Lateral Amiotrófica/genética , Expansão das Repetições de DNA , Demência Frontotemporal/genética , Proteínas/genética , Esclerose Lateral Amiotrófica/patologia , Esclerose Lateral Amiotrófica/fisiopatologia , Encéfalo/patologia , Proteína C9orf72 , Análise Mutacional de DNA , Família , Feminino , Demência Frontotemporal/patologia , Demência Frontotemporal/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem , Polônia , População Branca/genética
18.
Neurol Neurochir Pol ; 47(2): 152-6, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23650004

RESUMO

BACKGROUND AND PURPOSE: Ischaemic stroke is considered to be multifactorial and interactions between environmental and genetic factors play an important role. Although vascular risk factors are well known, the genetic ones are still undiscovered. In the present study, we assessed the significance of the ß-fibrinogen -455G/A gene polymorphism and the risk of ischaemic stroke in a Polish population. MATERIAL AND METHODS: 426 ischaemic stroke patients classified according to stroke aetiologies (small vessel disease, large vessel disease or cardioembolic stroke) and 234 controls were included in the study. The association of the ß-fibrinogen genotypes with ischaemic stroke was tested using logistic regression analysis under dominant, recessive or additive models of inheritance. RESULTS: The allele and genotype distributions of the ß-fibrinogen -455G/A gene polymorphism did not differ significantly between patients and controls (patients: G - 75%, GG - 56.6%, GA - 36.8%, AA - 6.6%; controls: G - 73.7%, GG - 57.3%, GA - 32.9%, AA - 9.8%; p > 0.05, χ2). In addition, logistic regression analysis adjusted for the known risk factors, i.e. hypertension, ischaemic heart disease, myocardial infarction, hypercholesterolaemia, diabetes mellitus and smoking, did not show a role of the studied polymorphism in ischaemic stroke. CONCLUSIONS: The ß-fibrinogen -455G/A gene polymorphism is not a risk factor for ischaemic stroke in a Polish population.


Assuntos
Fibrinogênio/genética , Infarto do Miocárdio/genética , Polimorfismo Genético , Idoso , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Polônia , Medição de Risco , População Branca
19.
J Neurol Sci ; 297(1-2): 82-4, 2010 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-20723913

RESUMO

BACKGROUND AND PURPOSE: Periodontitis is an independent risk factor for ischaemic stroke, but its influence on stroke severity has not been investigated yet. We studied the association of advanced periodontitis or edentulousness with neurological deficit on admission and short-term outcome of stroke patients. METHODS: The study included 169 patients with ischaemic stroke. The neurological deficit on admission was evaluated using the NIH stroke scale (NIHSS). The outcome at discharge was assessed using the modified Rankin scale (mRS) and the Barthel Index (BI). The clinical attachement level (CAL), the distance between cemento-enamel junction and the probed base of periodontal pocket, was recorded for each tooth at six sites. Advanced periodontitis was defined as CAL≥6mm in at least one measured site. RESULTS: Patients with advanced periodontitis or edentulousness were older than those with no or mild periodontitis (71.4years vs. 60.1; p<0.001), had greater neurological deficit on admission (8.9 vs. 5.7; p=0.01) and worse outcome at hospital discharge measured in the mRS (2.2 vs. 1.4; p=0.009). The presence of advanced periodontitis or edentulousness was independent risk factor for greater NIHSS on admission (p=0.025), after adjusting for age, gender and the studied risk factors. The logistic regression model, however, showed that stroke severity on admission but not advanced periodontitis or edentulousness, affected the outcome of stroke patients. CONCLUSIONS: Advanced periodontitis or edentulousness in patients with ischaemic stroke is associated with greater neurological deficit on admission.


Assuntos
Doenças do Sistema Nervoso/etiologia , Periodontite/complicações , Acidente Vascular Cerebral/complicações , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Periodontite/patologia , Fatores de Risco , Índice de Gravidade de Doença
20.
Neurol Neurochir Pol ; 44(3): 246-50, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20625960

RESUMO

BACKGROUND AND PURPOSE: Sporadic amyotrophic lateral sclerosis (sALS) is a devastating neurodegenerative disease, which results from complex genetic and environmental interactions. Recent studies have reported an association between several polymorphisms of the PON1 and PON2 genes and risk of sALS. The aim of the present study was to identify an association between the -A162G polymorphism of the promoter region of the human PON1 gene and the risk of sALS in a Polish population. MATERIAL AND METHODS: We included 259 patients with a diagnosis of definite or probable sALS (76 bulbar onset, 183 limb onset) and 694 healthy controls matched for age and sex. The diagnosis of ALS was established according to El Escorial criteria. The polymorphism was studied by Single Nucleotide Polymorphism Real-Time Polymerase Chain Reaction analysis. RESULTS: No overall difference in the PON1 -A162G geno-type and allele distribution was seen between cases and controls (all p > 0.05). There was, however, a difference in the A allele frequency when the bulbar onset group was compared to the controls (p = 0.03), but this significance disappeared after the Bonferroni correction. CONCLUSIONS: The results did not show that the -A162G polymorphism of the PON1 gene is a risk factor of sALS in a Polish population; it may affect, however, bulbar onset of the disease.


Assuntos
Esclerose Lateral Amiotrófica/genética , Arildialquilfosfatase/genética , Polimorfismo Genético/genética , Polimorfismo de Nucleotídeo Único/genética , Adulto , Alelos , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Fatores de Risco
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA